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X-gebonden distale arthrogryposis multiplex congenita (aandoening)
X-gebonden distale arthrogryposis multiplex congenita
spinale spieratrofie met artrogrypose
SMAX2
AMCX1
X-gebonden spinale musculaire atrofie type 2
X-linked distal arthrogryposis multiplex congenita
Infantile-onset X-linked spinal muscular atrophy
Spinal muscular atrophy with arthrogryposis
X-linked spinal muscular atrophy type 2
A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
Id719836007
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ74.3
TermArthrogryposis multiplex congenita
SNOMED CT to Orphanet simple map1145
SNOMED CT to ICD-10 extended map
TargetG12.1
RuleTRUE
AdviceALWAYS G12.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ74.3
RuleTRUE
AdviceALWAYS Q74.3
CorrelationSNOMED CT source code to target map code correlation not specified